Impaired cellular and humoral immunity is a feature of Diamond‐Blackfan anaemia; experience of 107 unselected cases in the United Kingdom

Summary Diamond‐Blackfan anaemia (DBA) is a rare bone marrow failure syndrome characterised by anaemia, congenital anomalies and cancer predisposition. Although infections are the second leading cause of mortality in non‐transplanted patients, immune function is largely unexplored. We identified qua...

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Bibliographic Details
Published in:British journal of haematology 2019-07, Vol.186 (2), p.321-326
Main Authors: Iskander, Deena, Roberts, Irene, Rees, Clare, Szydlo, Richard, Alikian, Mary, Neale, Michael, Harrington, Yvonne, Kelleher, Peter, Karadimitris, Anastasios, Fuente, Josu
Format: Article
Language:English
Subjects:
Adolescent
Anemia
Anemia, Diamond-Blackfan - genetics
Anemia, Diamond-Blackfan - immunology
Anemia, Diamond-Blackfan - mortality
Anemia, Diamond-Blackfan - pathology
Bone marrow
bone marrow failure
Child
Child, Preschool
Congenital anomalies
Congenital defects
corticosteroids
Diamond‐Blackfan
Female
Genotype
Genotypes
Hematology
Humans
Humoral immunity
Immune response
Immunity, Cellular
Immunity, Humoral
immunodeficiency
Immunoglobulins
Infant
Infections
Lymphocytes
Lymphocytes B
Male
red blood cell disorders
Ribosomal Proteins - genetics
Ribosomal Proteins - immunology
Steroids
United Kingdom - epidemiology
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Summary:Summary Diamond‐Blackfan anaemia (DBA) is a rare bone marrow failure syndrome characterised by anaemia, congenital anomalies and cancer predisposition. Although infections are the second leading cause of mortality in non‐transplanted patients, immune function is largely unexplored. We identified quantitative deficits in serum immunoglobulins and/or circulating T, natural killer and B lymphocytes in 59 of 107 unselected patients (55·1%) attending our centre over a 7‐year period. Immune abnormalities were independent of ribosomal protein genotype and arose in both steroid‐treated and steroid‐untreated patients. In summary, these data highlight the high prevalence and spectrum of infections and immune defects in DBA.
ISSN:0007-1048
1365-2141
DOI:10.1111/bjh.15915